Mayer-Rokytansky-Kyustner Syndrome

Mayer's syndrome of Rokytansky Kustner is a congenital malformation of reproductive organs in women, when the uterus and vagina are either completely absent (aplasia) or have defects in development. Aplasia of the vagina at the beginning of the XIX century was described by the German scientist Meyer. Rokitansky and Küster supplemented this diagnosis, discovering that the uterus can also be absent in the normally functioning ovaries. Outwardly, this defect is not noticeable, women have all secondary sexual characteristics (chest and hair in the genital areas), completely normal external genitalia. A set of chromosomes is also standard. Often, Mayer syndrome in Rokytan Kyustner is accompanied by anomalies in the structure of the urinary system and spine.

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Causes of the mayer-Rokytansky-Kyustner syndrome

The causes of Mayer's syndrome of Rokytan's Kyustner are not completely determined, therefore, there are no clear answers about the nature of the defect. In isolated cases, violations in the development of the embryo at the embryo stage were detected. These anomalies concerned the so-called Mullerian ducts, from which at a later stage the female genital organs appear. It is suspected that this defect may be caused by the lack of production of a certain protein (MIS) in the embryonic rudiment, the influence of chemical, including medications, on diabetes mellitus that has arisen during pregnancy. The genetic susceptibility to the syndrome was also traced, several cases of the disease were detected in one family.

Studies show that the deficit of certain enzymes and disturbances in the metabolic processes of the pregnant woman's organism are related to changes in the structure of DNA, and therefore information in the gene and heredity. In this case, the duration and strength of these impacts play an important role. If this occurs during a critical period (time of intensive cell division and organ formation), then the probability of the appearance of a given malformation of the reproductive system is possible.

Risk factors

The risk factors for Mayer's syndrome in Rokytan Kustner are various pathologies that accompany pregnancy, especially in its early stages. These include both uterine malformations (underdevelopment, abnormal position, tumors) and common diseases. At the embryonic stage of fetal development, his nutrition can be disturbed due to cardiovascular diseases. So for the rheumatism of the heart and hypertension is characterized by spasms of blood vessels, as a result of which metabolic processes between the mother and the fetus are disrupted. The mother's organism, including the placenta, receives less oxygen, and this affects the formation of the fetal organs and their development.

An unfavorable factor of the syndrome can be hormonal disorders, including aging of the body. Patients with diabetes have more frequent cases of infertility, miscarriages and other anomalies. Treatment with hormonal drugs, especially in the first trimester of pregnancy, can also lead to malformations.

The conflict of the Rh factor breaks the protective barrier of the placenta, and therefore makes the fetus an easier target for various adverse agents of influence.

Pathogenesis

The pathogenesis of Mayer's syndrome in Rokytan's Kyustner is not well understood.

Obviously one thing is that with such severe vestiges of the genital organs, the ovaries are normally developed and function. In them, the normal process of ovulation occurs when the egg leaves the follicle and leaves the ovary, and in its place a yellow body forms. Epidemiology of uterine aplasia and upper parts of the vagina, or in combination with anomalies of other organs, indicates that the frequency of their detection is one episode per 5 thousand of newborn girls. Single cases of the disease are more common than the genetically inherited ones.

Symptoms of the mayer-Rokytansky-Kyustner syndrome

Symptoms of Mayer's syndrome of Rokytansky Kustner are not found in childhood at all, because there are no visible deviations of the external genitalia. The first herald of the syndrome is the absence of menstruation at the age when puberty usually occurs (11-14 years). 40% of patients have abnormalities in the structure of the skeleton and disorders of the urinary system (the kidney may be horseshoe-shaped or absent, the ureters are doubled).

Stages

There are two stages of Mayer's syndrome in Rokytan's Kyustner: complete absence of the uterus and vagina and partial. At partial uterus has one or two horns and thin not fully developed fallopian tubes. Very rarely found in one of the horns an embryonic cavity with an endometrium.

The Mayer syndrome of Rokytansky Kustner can be divided into several types: single and family (inherited) cases. Also, this pathology can be classified as isolated, or in combination with the vices of other organs (kidneys, spine, heart).

Complications and consequences

Infertility is the main consequence of the Mayer syndrome of Rokytansky Kustner. There are periodic pains in the lower abdomen, which is associated with the maturation of the egg in the period of imaginary menstruation. Serious complications arise when during intercourse there are ruptures of the perineum, and sometimes the bladder and rectum.

Diagnostics of the mayer-Rokytansky-Kyustner syndrome

Diagnosis of Mayer's syndrome of Rokytansky Kustner consists in the following stages:

• collection of information about the symptoms of the disease, the presence of allergic reactions, hereditary diseases, pregnancies, postoperative operations, etc .;
• examination by a gynecologist on the chair. Usually, the doctor ascertains the normal development of the woman's external genitalia, its compliance with age norms;
• probing the vagina. This stage makes it possible to determine the blindly terminating truncated vagina (1-1.5 cm);
• palpation of the uterus through the rectum, finds in place the uterus and appendages of the filament of connective tissue (the cord);
• conducting laboratory and clinical studies;
• ultrasound examination of the genitourinary system.

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Analyzes

With the syndrome of Mayer Rokitansky Kustner urine and blood tests provide hormonal research to obtain a picture of the hormonal background. In the urine determine the content of sex hormones of pregnanediol and estrogens. Pregnanediol is the product of hormone progesterone metabolism, estrogens are the common name of a number of hormonal compounds that play an important role in the metabolism. With Mayer's syndrome in Rokytansky Kustner, these rates are normal.

A blood test examines the plasma for the content of gonadotropins and steroids. Gonadotropin - a hormone produced by the placenta during pregnancy, steroid hormones regulate metabolic processes. With this syndrome, these hormones are also normal. General and biochemical blood test and general urine analysis will prompt the presence of incidental diseases. Bacterioscopic and bacteriological analysis of the smear of excretions will indicate the state of the epithelium, the number of leukocytes, the presence of mucus, bacteria, fungi, i.e. On the composition of the microflora of the genital tract. This will make it possible to identify inflammations, venereal diseases.

Instrumental diagnostics

Instrumental diagnostics includes ultrasound or magnetic resonance tomography of the small pelvis, which confirms the absence or underdevelopment of the uterus and vagina, and will identify the defects of the kidneys, ureters and other organs. To clarify the degree of anomaly, a diagnostic laparoscopy is performed.

The determination of the normal operation of the ovaries takes place by measuring the basal temperature with a thermometer. This procedure consists in measuring the temperature in the vagina or rectum from 7 am to 7.30 am, without getting out of bed. A special spatula or scapula, a gynecological mirror, a slide are required to take the smear.

Differential diagnosis

The differentiated diagnosis of Mayer's syndrome in Rokytan's Kyustner is to distinguish it from the testicular feminization syndrome, which is also called false male hermaphroditism in patients with female genitalia. Both syndromes are characterized by female phenotype of the patient's appearance, absence of menstrual cycle, abnormality of the vagina and uterus. At the same time, testicular feminization is characterized by a complete or partial absence of hair in the groin and armpits, and the formation of the external genitalia is impaired. In contrast to Mayer's syndrome of Rokytansky Kustner, the set of chromosomes in such women is male (46 XY), and in the inguinal canals or abdominal cavity testicles are found.

Treatment of the mayer-Rokytansky-Kyustner syndrome

All treatment for Mayer's syndrome in Rokytan's Kyustner is to eliminate factors that prevent normal sexual contact. For this, there is a unique method - to form an artificial vagina by means of surgical intervention. To give birth to a child with such an anomaly is impossible.

With an underdeveloped vagina, if it has a length of 2-4 cm, there is a way to increase it using procedures such as bougie and dilatation. Buzhirovanie is a stretching of the vagina yourself with the help of a dildo. It must be gently injected into the vagina twice a day, making smooth circular motions for 10-20 minutes. The result can be obtained after six months of performing such exercises.

The principle of dilatation (expansion) of the vagina is also applied. The dilator is located in the vaginal cavity and acts on it with a certain pressure. The procedure is done daily 2-3 times a day for 20-30 minutes. When the size of the dilator starts to match the size of the vagina, take the enlarged and repeat again. To achieve this goal, you need at least three months.

Operative treatment

The only way to help patients to lead a normal sex life in the absence of the vagina or very short is surgical treatment. It consists in the formation of artificial - colpopoiesis.

There are two methods of surgical intervention: open surgery and laparoscopy. Laparoscopic colpopeosis is preferable, because gives a better aesthetic result. The operation consists in the formation of a new vagina from the sigmoid colon. If you can not use this material, you can form a vagina from the pelvic peritoneum, thin or transversely colon.

The microflora, the epithelium of the new vagina corresponds to the natural average after 3 months. Sexual life is possible in a month and to conduct it after surgery is necessary regularly or to do bougie, since it is possible sclerosis, stenosis and bowel atrophy.

Prevention

Prevention of Mayer's syndrome in Rokytansky Kustner is reduced to recommendations to pregnant women, especially in the first weeks of pregnancy, when the embryo is in the embryo stage. It is necessary to adhere to a healthy lifestyle, avoid the use of alcoholic beverages, nicotine, medications, stress. Strong physical activity must also be eliminated, try to avoid traumatic moments.

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Forecast

The prognosis for the Mayer syndrome of Rokytansky Kustner is of the nature of half-measures, since the treatment is aimed at making a woman fit for normal sex life, but the developmental defect does not eliminate. It is impossible to become pregnant with such a diagnosis independently, but thanks to the normal function of the ovary, it is possible to fertilize the egg in a test tube and to put a surrogate mother (in vitro fertilization).